Definition

Alpha 1 anti-trypsin (AAT) deficiency is a rare genetic disorder that causes the enzyme AAT to not work well. It can cause lung and liver disease in children and adults.

Causes

AAT deficiency is an inherited disorder. It is passed from parents to children. This condition occurs when the liver does not make useful AAT. AAT is a protein that protects the lungs and other organs from damage. When functional AAT levels are too low, lung damage may occur.

People with AAT deficiency can also develop liver disease. AAT deficiency is one of the major causes of genetic liver disease in children. The liver makes an abnormal version of AAT protein that builds up in the liver. This blockage can damage liver cells. In some cases, severe liver damage can occur.

Risk Factors

If either of your parents have the gene for AAT deficiency, you are at risk of developing problems due to the disease. If both your parents carry the gene, you are at higher risk of having severe problems.

Symptoms

The first symptoms of the disease often appear in adulthood between the ages of 20-50 years:

Shortness of breath during mild activity

Coughing up sputum (mucus from deep in the lungs)

Wheezing

Weight loss

Lung disease that affects the air sacs

Raised red spots on the skin

In addition, if the liver is affected in adults, the following symptoms may be present:

Itching

Yellowing of the skin and/or whites of the eyes

Vomiting

Swollen abdomen

Abdominal pain

Symptoms in children can occur in the first weeks of life or later in childhood.

Infants:

Yellowing of the skin and/or whites of the eyes

Poor growth and weight gain

Foul-smelling stools

Swollen abdomen

Vomiting

Itching

Older children:

Fatigue

Poor appetite

Swollen abdomen

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done. You may be referred to a doctor who specializes in the lungs or liver, depending on the symptoms you are having.

Your bodily fluids and tissues may be tested. This can be done with:

Blood tests—to examine if AAT levels in the blood are low

Genetic testing—to identify the inherited change that causes AAT

Liver biopsy
—a small piece of the liver is removed and examined for inflammation or scarring

Images may be taken of your lungs. This can be done with a chest x-ray.

Treatment

Talk with your doctor about the best treatment plan for you. Treatment options include the following:

Treatment for Lung Disease

Medications

You may be prescribed medications to boost the levels of AAT. These may be given weekly through an IV in your arm. If you have emphysema, your doctor may treat you with inhaled steroids and other medications to improve your breathing.

Smoking Cessation

If you smoke, your doctor will work with on ways to quit. Smoking can increase the damage to your lungs.

Treatment for Liver Damage

There is no specific treatment for liver disease due to AAT deficiency. Treatment focuses on symptoms and preventing complications. Treatment may include:

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.